ABSTRACT
Objective: To investigate the clinicopathological and cytogenetic features of cryptic COL1A1-PDGFB fusion dermatofibrosarcoma protuberans (CC-DFSP). Methods: Three cases of CC-DFSP diagnosed in West China Hospital, Sichuan University, Chengdu, China from January 2021 to September 2021 were studied. Immunohistochemistry for CD34 and other markers, fluorescence in situ hybridization (FISH) for PDGFB, COL1A1-PDGFB and COL1A1, next-generation sequencing (NGS), reverse-transcriptase polymerase chain reaction (RT-PCR) and Sanger sequencing were performed. Results: There were three cases of CC-DFSP, including two females and one male. The patients were 29, 44 and 32 years old, respectively. The sites were abdominal wall, caruncle and scapula. Microscopically, they were poorly circumscribed. The spindle cells of the tumors infiltrated into the whole dermis or subcutaneous tissues, typically arranging in a storiform pattern. Immunohistochemically, the neoplastic cells exhibited diffuse CD34 expression, but were negative for S-100, SMA, and Myogenin. Loss of H3K27me3 was not observed in the tumor cells. The Ki-67 index was 10%-15%. The 3 cases were all negative for PDGFB rearrangement and COL1A1-PDGFB fusion, whereas showing unbalanced rearrangement for COL1A1. Case 1 showed a COL1A1 (exon 31)-PDGFB (exon 2) fusion using NGS, which was further validated through RT-PCR and Sanger sequencing. All patients underwent extended surgical resection. Except for case 3 with recurrence 2 years after surgical resection, the other 2 cases showed no recurrence or metastasis during the follow-up. Conclusions: FISH has shown its validity for detecting PDGFB rearrangement and COL1A1-PDGFB fusion and widely applied in clinical detection. However, for cases with negative routine FISH screening that were highly suspicious for DFSPs, supplementary NGS or at least COL1A1 break-apart FISH screening could be helpful to identify cryptic COL1A1-PDGFB fusions or other variant fusions.
Subject(s)
Female , Humans , Male , Adult , Collagen Type I, alpha 1 Chain , Dermatofibrosarcoma/pathology , In Situ Hybridization, Fluorescence , Oncogene Proteins, Fusion/genetics , Proto-Oncogene Proteins c-sis/genetics , Skin Neoplasms/pathologyABSTRACT
Abstract Dermatofibrosarcoma protuberans is a rare mesenchymal tumor; it is locally aggressive and presents high rates of local recurrence. It may present as a nodular or plaque vegetating lesion. It mainly affects the trunk and proximal limbs, being rare in the distal extremities. Biopsy and immunohistochemistry help confirm the diagnosis. The authors report a case of dermatofibrosarcoma protuberans with plantar region involvement, a rare presentation. To the best of the authors' knowledge, only 11 cases of involvement of the feet were described in the international literature.
Subject(s)
Humans , Skin Neoplasms , Dermatofibrosarcoma , Biopsy , Immunohistochemistry , Neoplasm Recurrence, LocalABSTRACT
Resumen: Introducción: El tumor de Bednar es un sarcoma de bajo grado, infrecuente, considerado como la variante pigmen tada del dermatofibrosarcoma protuberans (DFSP). Objetivo: describir las características clínicas, histopatológicas, el tratamiento y la evolución de un caso pediátrico de esta infrecuente neoplasia. Caso Clínico: escolar de 9 años que consultó por una pápula indurada asintomática, de dos años de evolución en el dorso del cuarto dedo del pie izquierdo. La biopsia incisional de la lesión fue com patibles con un DFSP pigmentado. El estudio inmunohistoquímico mostró positividad intensa para CD34 en toda la lesión, con factor XIIIa negativo. Se complementó el estudio de la pieza histológica con citogenética molecular FISH para el gen PDGFB (22q13.1) el cual reflejó un patrón anómalo en las células tumorales, no así en los melanocitos ni en la piel peritumoral. Se realizó cirugía micrográfica de Mohs diferida con cobertura mediante sustituto dérmico, sin recidiva ni recurrencia tumoral a los 5 años de seguimiento. Conclusiones: El DFSP pigmentado es un sarcoma de bajo grado, que muy infrecuentemente se presenta en pacientes pediátricos. Las variantes clásica y pigmentada deben ser sospechadas ante una lesión papulonodular única, de crecimiento lento y progresivo, con presencia de células fusiformes con patrón estoriforme en la biopsia y con estudio inmunohistoquímico positi vo para CD34. Es una entidad con buen pronóstico, con escaso riesgo de recurrencia y metástasis, si se logra la realización de una extirpación completa.
Abstract: Introduction: Bednar tumor is a rare low-grade sarcoma considered the pigmented variant of dermatofibrosarco ma protuberans (DFSP). Objective: To describe the clinical and histopathological characteristics, treatment and evolution of this rare neoplasm. Clinical Case: A 9-year old female presented with a 2-year history of an indurated, asymptomatic papule on the back of her fourth left toe. The incisio nal biopsy was compatible with pigmented DFSP. The immunohistochemical study showed intense positivity for CD34 throughout the lesion, with negative factor XIIIa. We complemented the study with molecular cytogenetics (FISH) for PDGFB gene (22q13.1) which showed an abnormal pattern in tumor cells, but not in the melanocytes or the peritumoral skin. Delayed Mohs surgery and skin substitute dressing were performed without neoplastic recurrence at 5 years of follow up. Conclu sion: Pigmented DFSP is a low-grade sarcoma that is very rare in pediatric patients. The classical and pigmented variants should be suspected in the presence of a single papulonodular lesion of slow and progressive growth, with presence of spindle cells with storiform pattern in the biopsy and positive immunohistochemical study for CD34. It is an entity with good prognosis, with little risk of recurren ce and metastasis, if complete excision is achieved.
Subject(s)
Humans , Female , Child , Skin Neoplasms/diagnosis , Dermatofibrosarcoma/diagnosis , Skin Neoplasms/surgery , Skin Neoplasms/pathology , Dermatofibrosarcoma/surgery , Dermatofibrosarcoma/pathologyABSTRACT
Solitary fibrous tumor (SFT) is a relatively uncommon mesenchymal neoplasm that usually arises in the pleura, but also has been reported in numerous extrapleural locations, including cutaneous site. The skin lesion presents as a circumscribed nodule or tumor, mainly on the head and neck. A 41-year-old male presented with 6 months history of nail lesion without symptom on the left third finger. The lesion is slightly yellowish discoloration with subungual erythematous nodule and distal onycholysis. Biopsy specimen from the nail lesion showed the spindle cells form patternless pattern with hypercellular and hypocellular area. And small blood vessels and dilated vascular spaces were present. The result of special stain for specimen showed that positive for CD34, Bcl-2, and CD99 but negative for S-100, FactorXIIIa, and smooth muscle action. Recognition of this uncommon location of SFT is important because of possible confusion with other subungual tumors, including glomus tumor, fibroma and other fibrohistiocytic tumors like dermatofibrosarcoma protuberans, superficial acral fibromyxoma and cellular digital fibroma. Here in, we report a case of SFT of subungual region. We think this case is interesting because of uncommon location and may be helpful to more understand the character of this disease.
Subject(s)
Adult , Humans , Male , Biopsy , Blood Vessels , Dermatofibrosarcoma , Fibroma , Fingers , Glomus Tumor , Head , Muscle, Smooth , Neck , Onycholysis , Pleura , Skin , Solitary Fibrous TumorsABSTRACT
Solitary fibrous tumors (SFT) are uncommon mesenchymal tumors. SFT have several synonyms including localized fibrous tumor, benign mesothelioma, localized fibrous mesothelioma, and submesothelial fibroma. SFT usually occur in the pleura or other serosal surfaces, but SFT can also develop in extrapleural areas including the nasal cavity, orbit, retroperitoneum, and pelvis. Cutaneous SFT is extremely rare, and more likely to occur in the head and neck region. Histologically, this tumor can mimic a variety of benign and malignant tumors such as dermatofibroma, dermatofibrosarcoma protuberans, spindle cell lipoma or other mesenchymal tumors. Most cases of SFT show non-aggressive clinical courses, with low recurrence rates. Herein, we describe a case of primary cutaneous SFT which presented with huge mass on the back.
Subject(s)
Dermatofibrosarcoma , Head , Histiocytoma, Benign Fibrous , Lipoma , Mesothelioma , Nasal Cavity , Neck , Orbit , Pelvis , Pleura , Recurrence , Skin , Solitary Fibrous Tumor, Pleural , Solitary Fibrous TumorsABSTRACT
El dermatofibrosarcoma protuberans (DFSP) es un tumor cutáneo, de baja frecuencia, fibrohistiocítico, infiltrante, de lento crecimiento, de agresividad local, de malignidad intermedia; con escasas probabilidades de metástasis pero con alto índice de recurrencia local. El diagnóstico debe sospecharse y confirmarse con histología e inmunohistoquímica. El tratamiento de elección es con cirugía convencional y/o cirugía micrográfica de Mohs, con márgenes de 2-4 cm. Se considera que la prevalencia del DFSP en la edad pediátrica es baja, debido al escaso índice de sospecha. En el presente trabajo compartimos cinco casos de DFSP en la edad pediátrica, estudiados en el Hospital General de Niños Pedro de Elizalde. (AU)
Dermatofibrosarcoma protuberans (DFSP) is a cutaneous, low frequency, fibrohistiocytic, infiltrating, slow growing, local aggressiveness, intermediate malignancy tumor; with little chance of metastasis but with a high rate of local recurrence. The diagnosis should be suspected and confirmed with histology and immunohistochemistry. The treatment of choice is with conventional surgery and / or Mohs micrographic surgery, with margins of 2-4 cm. The prevalence of DFSP in pediatric age is considered to be low, due to the low index of suspicion. In this paper we share five cases of DFSP in the pediatric age, studied at the Pedro de Elizalde Children's General Hospital. (AU)
Subject(s)
Humans , Male , Female , Child , Adolescent , Skin Neoplasms/surgery , Skin Neoplasms/diagnosis , Dermatofibrosarcoma/surgery , Dermatofibrosarcoma/diagnosis , Pediatrics , Skin Neoplasms/therapy , Dermatofibrosarcoma/therapy , Diagnosis, DifferentialABSTRACT
Introducción: El dermatofibrosarcoma protuberans(DFSP), es uno de los tumores cutáneos menos frecuentes, se clasifica dentro de los sarcomas fibrohistociticos y está caracterizado por un crecimiento lento y progresivo. Métodos: Se realizó una serie de casos retrospectiva de los pacientes con DFSP atendidos en el Centro de la Piel (CEPI) entre 2010 y 2019, se tomó en cuenta la información demográfica, características clínicas, tratamiento y su evolución. Resultados: Seis pacientes fueron diagnosticados y tratados por DFSP en el período evaluado, existió un predominio de mujeres (4 mujeres, 2 hombres) con una media de edad de 58.2 (DE =19,6), tres de ellos presentaron lesiones en forma de placa indurada y los restantes presentaron nódulo único, la localización de las lesiones fueron en hombro, cuello e hipogastrio. El tratamiento más utilizado fue la escisión amplia, ninguno de los pacientes presentó recidivas al primer y quinto año del seguimiento. Conclusión: Es necesario el reconocimiento de las características clínicas típicas de DFSP ya que podría pasar como una tumoración benigna de piel, por lo cual se debe apoyar con el estudio histopatológico frente a la sospecha de este tipo de lesión
Introduction: Dermatofibrosarcoma protuberans (DFSP) is one of the rare tumors found in the fibrohistocytic sarcomas and it is characterized by slow and progressive growth. Methods:A retrospective study of six cases treated at the Skin Center (CEPI) between 2010 and 2019 was carried out. We have take into account demographic information, characteristics, treatment and evolution of the lesions. Results:Six patients were diagnosed and treated by DFSP. There was a predominance of women (4 women, 2 men) with a mean age of 58.2 (SD = 19.6), three of them presented lesions in the form of indurated plaque and the rest presented a unique nodule. The locations of the lesions were the shoulder, neck and hypogastrium. The most commonly used treatment was wide excision, none of the patients presented recurrences at the first and fifth year of follow-up. Conclusion:Recognition of the typical clinical characteristics of DFSP is necessary since it could be mistaken as a benign tumor of the skin. The diagnosis must be always done by histopathological confirmation
Subject(s)
Skin , Mohs Surgery , Dermatofibrosarcoma , Histiocytic SarcomaABSTRACT
Resumen El dermatofibrosarcoma protuberans (DFSP) es un sarcoma cutáneo de baja incidencia y lento crecimiento que afecta principalmente a personas de entre 20 a 39 años y es más frecuente en afrodescendientes. La localización anatómica más común es el tronco, seguido de las extremidades superiores. La etiología no está clara, pero la mayoría de los casos presentan rearreglos genéticos que involucran los genes COL1A1 y PDGFB. El riesgo de metástasis es bajo, pero tiene tendencia a la recurrencia local, especialmente en: los tumores resecados con márgenes insuficientes, los tumores profundos y los tumores que presentan cambio fibrosarcomatoso. La primera línea de manejo para la enfermedad local es la cirugía con la resección local amplia o la cirugía micrográfica de Mohs (CMM), que ha mostrado recurrencias consistentemente bajas. La radioterapia se ha usado para tumores irresecables o como adyuvancia. En los casos de enfermedad metastásica el manejo de elección es el imatinib.
Abstract Dermatofibrosarcoma protuberans (DFSP) is a low incidence and slow growing cutaneous sarcoma that mainly affects individuals between 20 and 39 years old and is more frequent in black race. The most common anatomical site is the trunk, followed by the upper extremities. The etiology is unclear, but the most cases present genetic rearrangements involving the COL1A1 and PDGFB genes. The risk of metastasis is low, but it tends to local recurrence, especially when section margins were insufficient, in deep tumors or those with fibrosarcomatous change. The first line of treatment for local disease is surgery; wide local resection or Mohs micrographic surgery (MMS). The latter technique has shown consistently low recurrence rate. Radiotherapy has been used for unresectable cases or as adjuvant therapy. Imatinib is useful for metastatic disease.
Subject(s)
Humans , Mohs Surgery , Dermatofibrosarcoma , TherapeuticsABSTRACT
RESUMEN El dermatofibrosarcoma protuberante es un raro tumor fibrohistiocitario de la piel y grado intermedio de malignidad. Localmente tiene un comportamiento agresivo, se extiende al tejido celular subcutáneo y músculo subyacente. Su crecimiento es lento e indoloro con una alta frecuencia de recurrencia posterior a la intervención quirúrgica. Se presentó una paciente operada en el Servicio de Cirugía General del "Hospital Universitario Dr. Mario Muñoz Monroy" de Colón, Matanzas. Diagnosticada con dermatofibrosarcoma protuberans se presentó con un tumor de partes blandas, localizado en parrilla costal izquierdo, recidivante sobre una lesión resecada anteriormente hacia 8 meses. El tumor de superficie multinodular e irregular, de aproximadamente 3 a 4 cm de diámetro, presentaba zonas de color azuladas y otras más oscuras con un área enrojecida circundante, consistencia dura, y no adherida a planos profundos. Con el resultado anatomopatológico se ratificó el diagnóstico. Nuevamente se aplicó tratamiento quirúrgico con amplios márgenes libres de tumor. Las metástasis son raras y pocos frecuentes, pero localmente pueden infiltrar, grasa, fascia, músculos y hasta estructuras óseas. Cuando se presentan ocurren generalmente en pulmón y ganglios linfáticos regionales, en estos casos la supervivencia es muy poca.
ABSTRACT Dermatofibrosarcoma protuberant (DFSP) is a rare fibrohistiocytic skin tumor of intermediate level of malignance. Locally it has an aggressive behavior extending to the subcutaneous cellular tissue and underlying muscle. Its grow is slow and painless with a high recurrence frequency after surgery. The authors present the case of a female patient operated in the Service of General Surgery of the University Hospital ¨Dr. Mario Muñoz Monroy¨ of Colon, Matanzas. Diagnosed with dermatofibrosarcoma protuberant, she arrived to the consultation with a tumor of soft tissues located in left rib cage, recidivist on a lesion resected 8 months before. It had a multinodular and irregular surface, of around 3-4 cm diameter, with bluish and dark blue areas and a reddened surrounding area of hard consistence, not adhered to deep planes. The diagnosis was ratified by the neuropathologic result. The surgical treatment was applied again with wide free-tumors margins. Metastases are rare and few frequent, but locally they can infiltrate fat, fascia, muscles and even bone structures. When they present they occur mainly in lung and regional lymphatic ganglia; in these cases survival is scarce.
Subject(s)
Humans , Female , Adult , Dermatofibrosarcoma/surgery , Dermatofibrosarcoma/pathology , Dermatofibrosarcoma/diagnostic imaging , Skin Neoplasms/diagnosis , Soft Tissue Neoplasms/diagnosis , Neoplasm Recurrence, LocalABSTRACT
PTEN hamartoma tumor syndrome is a spectrum of disorders characterized by unique phenotypic features including multiple hamartomas caused by mutations of the tumor suppressor gene PTEN. Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome are representative diseases, and both have several common clinical features and differences. Because PTEN mutations are associated with an increased risk of malignancy including breast, thyroid, endometrial, and renal cancers, cancer surveillance is an important element of disease management. We report a germline mutation of the PTEN (c.723dupT, exon 7) identified in a young woman with a simultaneous occurrence of breast cancer, dermatofibrosarcoma protuberans, and follicular neoplasm. This case suggests that it is critical for clinicians to recognize the phenotypic features associated with these syndromes to accurately diagnose them and provide preventive care.
Subject(s)
Female , Humans , Breast , Breast Neoplasms , Dermatofibrosarcoma , Disease Management , Exons , Genes, Tumor Suppressor , Germ-Line Mutation , Hamartoma , Hamartoma Syndrome, Multiple , Kidney Neoplasms , Thyroid GlandABSTRACT
RESUMEN El dermatofibrosarcoma protuberans (DFSP) es un sarcoma fusocelular de grado intermedio de malignidad con máxima incidencia en adultos entre 20 y 40 años y de localización habitualmente troncular (cabeza, cuello extremidades superiores). Se presentan tres casos de DFSP de localización excepcional a nivel vulvar. Las pacientes fueron tratadas con vulvectomía respetando márgenes de seguridad pero, debido a la idiosincrasia del tumor, presentaron recidivas locales que precisaron de una nueva cirugía. En su posterior seguimiento no presentaron recaídas y se encuentran libres de enfermedad.
ABSTRACT Dermatofibrosarcoma protuberans (DFSP) is an intermediate grade spindle-cell sarcoma with a highest incidence in adults between 20 and 40 years old and a trunk location (head, neck and arms). We introduce three case reports of vulvar DFSP considered unusual because of their location. The patients were conducted a free-margin vulvectomy but, due to the nature of the tumor, local reappearances required a second surgery. In the subsequent follow-up they did not suffer from any tumor relapse and they are currently disease-free.
Subject(s)
Humans , Female , Adult , Middle Aged , Skin Neoplasms/surgery , Skin Neoplasms/diagnosis , Vulvar Neoplasms/surgery , Vulvar Neoplasms/diagnosis , Dermatofibrosarcoma/surgery , Dermatofibrosarcoma/diagnosis , Skin Neoplasms/pathology , Vulvar Neoplasms/pathology , Mohs Surgery , Dermatofibrosarcoma/pathology , Diagnosis, Differential , VulvectomyABSTRACT
Background: Breast malignancies encompass various subtypes which differ in their clinical presentations, outcomes, and response to the treatment regimens. Thus, a proper histological diagnosis and a special mention of the rare histologic subtypes are required to formulate clear recommendations of their treatment protocols. Materials and Methods: This is a 1-year retrospective study highlighting the rarely encountered subtypes on the mastectomy specimens received. Results: We encountered only 11 rare cases out of the total 153 mastectomy specimens received. The rare subtypes were as follows mucinous cystadenocarcinoma (0.6%), mucinous carcinoma (0.6%), dermatofibrosarcoma protuberans (0.6%), Squamous cell carcinoma (0.6%), papillary carcinoma (2.6%), medullary carcinoma (0.6%), and malignant mesenchymal tumor (1.3%). Conclusion: Our data suggest that these variants are distinct clinicopathological entities with a unique hormonal receptor status. Scant information is available on the rare breast tumor subtypes
Subject(s)
Carcinoma, Medullary , Carcinoma, Papillary , Cystadenocarcinoma , Dermatofibrosarcoma , IndiaABSTRACT
Hairless scalp areas can occur due to trauma, tumors, or congenital disease. This aesthetically unpleasing condition can lead to psychosocial distress, and thin skin flaps may be prone to scarring. Treating the hairless scalp by simple excision is challenging because of skin tension. Tissue expanders are a good option for hairless scalp resurfacing. However, a single expansion may be inadequate to cover the entire defect. This report describes good results obtained using a serial resurfacing method involving re-expansion of the flap with a tissue expander to treat two patients with large lesions: one due to aplasia cutis congenital and another who underwent dermatofibrosarcoma protuberance resection. The results suggest that scalp resurfacing by serial tissue expansion using a tissue expander can be used for extensive lesions.
Subject(s)
Humans , Alopecia , Cicatrix , Dermatofibrosarcoma , Methods , Scalp , Skin , Tissue Expansion , Tissue Expansion DevicesABSTRACT
BACKGROUND: The slide-swing skin flap is a combination of transposition and adjacent skin sliding and can be used to close large, round defects with a flap that is smaller than the primary defect to produce aesthetically good results. OBJECTIVE: To evaluate the efficacy and safety of the slide-swing skin flap for various surgical defects caused by skin tumor excisions. METHODS: This retrospective case series, which includes 33 Asian patients between the ages of 25 and 86 years, describes the slide-swing skin flap after primary excision for malignant or premalignant skin conditions. The outcomes were assessed 12 weeks after surgery using the patient and observer scar assessment scale (POSAS). RESULTS: Patients were 25 male and 8 female, and the causes of surgery were various malignant skin tumors including malignant melanoma, dermatofibrosarcoma protuberans, and malignant nodular hidradenoma. Tumors were on the lower limb in eleven patients, back in nine patients, chest in five patients, face in three patients, buttock in three patients and two patients had tumors in other locations. The mean defect size was 3.5×3.1±1.9×2.2 cm (range, 1.4×0.9~9.0×12.0 cm). The mean patient POSAS total score was 9.7±3.0 and mean patient overall opinion score was 1.8±0.7. The mean observer POSAS total score was 11.0±2.7 and mean observer overall opinion score was 1.9±0.5. All flaps survived and postoperative recoveries were uneventful. CONCLUSION: The slide-swing skin flap is highly versatile and can be used to cover various surgical defects, irrespective of size and location, with excellent functional and cosmetic results.
Subject(s)
Female , Humans , Male , Acrospiroma , Asian People , Buttocks , Cicatrix , Dermatofibrosarcoma , Lower Extremity , Melanoma , Retrospective Studies , Skin Neoplasms , Skin , Surgical Flaps , ThoraxABSTRACT
BACKGROUND: The occurrence of cutaneous malignant tumors has been increasing worldwide due to changes in various environmental factors. OBJECTIVE: Our study aimed to analyze the overall tendency of clinical characteristics in single-center patients with cutaneous malignant tumors according to sex, age, duration, size, anatomic site, treatment, and concomitant diseases. METHODS: We retrospectively reviewed the medical records and clinical photographs of 319 patients diagnosed with cutaneous malignant tumors (basal cell carcinoma, squamous cell carcinoma, melanoma, lymphoma, Paget's disease, metastatic skin cancer, mycosis fungoides, angiosarcoma, dermatofibrosarcoma protuberans, Kaposi sarcoma, malignant fibrous histiocytoma, Merkel cell carcinoma) and 109 patients diagnosed with premalignant tumors (Bowen's disease) between January 2007 and January 2017. RESULTS: The average annual incidence of malignant cutaneous tumors was 2.4%. In total, 158 males (36.9%) and 270 females (63.1%) were included with a mean age of onset of 66 years. Among the malignant tumors, basal cell carcinoma (30.8%) was the most common, while the incidences of squamous cell carcinoma (18.9%), melanoma (6.3%), and lymphoma (4.4%) were also high. The predominantly involved anatomic sites were the face (67.3%), trunk (11.5%), and legs (10.9%). Most cases involved solitarily existing tumors (77.3%), and pruritus (21.7%) was the most common accompanying symptom. Among the 69.6% of patients who received treatment for their tumors, the most common method was surgical removal. No significant increase in concomitant diseases or environmental factors was detected. CONCLUSION: Our study is meaningful as an overall and recent review of various types of cutaneous malignancies that provides preliminary data for further large-scale nationwide studies.
Subject(s)
Female , Humans , Male , Age of Onset , Carcinoma, Basal Cell , Carcinoma, Squamous Cell , Dermatofibrosarcoma , Hemangiosarcoma , Histiocytoma, Malignant Fibrous , Incidence , Leg , Lymphoma , Medical Records , Melanoma , Methods , Mycosis Fungoides , Pruritus , Retrospective Studies , Sarcoma, Kaposi , Skin Neoplasms , Statistics as TopicABSTRACT
Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft tissue neoplasm of low metastatic potential notable for its progressive growth and high rate of local recurrence after surgical excision. Fibrosarcomatous transformation of DFSP (FS-DFSP) is a rare variant characterized by higher rates of local recurrence and metastasis. Trauma has been hypothesized as a potential risk factor for the development of DFSP, although clear evidence has been lacking. In this study, we report a case of FS-DFSP that was found arising from a previously stable scar following a traumatic injury. A 49-year-old male was diagnosed with keloid scars following a motor vehicle accident where he sustained trauma. 12 years later, a large tumor developed immediately after a second traumatic event to the primary scar. Pathology of the excisional biopsy specimen demonstrated FS-DFSP with focal areas consistent with keloid and hypertrophic scar. This observation demonstrates the development of DFSP from underlying scar following a clear history of trauma. Furthermore, it suggests trauma as a possible trigger for the fibrosarcomatous transformation of DFSP.
Subject(s)
Humans , Male , Middle Aged , Skin Neoplasms/ethnology , Wounds and Injuries/complications , Dermatofibrosarcoma/ethnology , Skin/injuries , Cicatrix, Hypertrophic , Dermatofibrosarcoma/pathology , KeloidABSTRACT
Introdução: O dermatofibrossarcoma protuberante (DFSP) é um tumor fibrohistiocítico de origem dérmica raro, que acomete a pele, representando 1% dos sarcomas de partes moles e menos de 0,1% de todas malignidades. A principal característica deste tipo de tumor é a sua elevada taxa de recidiva local após excisão cirúrgica. Decidir a margem cirúrgica adequada para a ressecção completa é um desafio. Relato de caso: 24 anos, apresenta lesão tumoral vegetante avermelhada no ombro esquerdo, assintomática. Possui história familiar positiva de DFSP em membro inferior. O laudo histopatológico definitivo confirmou Dermatofibrossarcoma protuberans. Discussão: A característica histológica do tumor é a presença de projeções tipo tentáculos de células neoplásicas na periferia que se estendem através do tecido subcutâneo até a fáscia muscular. Certamente, o fator de maior importância para o controle local é a obtenção de margens cirúrgicas livres. A excisão através da cirurgia micrográfica de Mohs é uma ótima opção em regiões onde a excisão ampla não é desejável, como na face. A margem padrão estabelicida em grande parte da literatura é de 3 cm com ressecção até a fáscia muscular, podendo ser diminuida para 2 cm em locais em que a excisão ampla prejudique a conformação do local, como na face. (AU)
Dermatofibrosarcoma protuberans (DFSP) is a rare dermal fibrohistiocytic tumor that affects the skin, accounting for 1% of soft tissue sarcomas and representing less than0.1% of all malignancies. The main characteristic of this type of tumor is a high rate of local recurrence after surgical excision. Deciding the proper surgical margin for complete resection is a challenge. Case report: 24 year-old, shows a reddish vegetative asymptomatic tumor on the left shoulder. She has a positive family history of DFSP in the lower limb. The definitive histopathological report confirmed Dermatofibrossarcoma protuberans. Discussion: The histological feature of the tumor is the presence of tentacle type projections of neoplastic cells in the periphery extending through the subcutaneous tissue to the muscular fascia. Of course, the most important factor for local control is the achievement of free surgical margins. Excision through Mohs micrographic surgery is a great option in regions where wide excision is not desirable, as in the face. The standard margin in most pf the literature is 3 cm resected to the muscular fascia, and it can be reduced to 2 cm in places where the extensive excision impairs the conformation of the site, as in the face. (AU)
Subject(s)
Humans , Female , Adult , Skin Neoplasms , Dermatofibrosarcoma , Myocutaneous Flap , Margins of ExcisionABSTRACT
Abstract: Dermatofibrosarcoma protuberans is an uncommon neoplasm that is most often seen in young adults. The most common clinical presentation is the protruding form; however, other subtypes are known, such as the atrophic. In 2012 there were only 33 reports of this variant in the literature. Many cases of Dermatofibrosarcoma protuberans in children are only discovered in adulthood because they were not diagnosed early. Due the high morbidity, we raise the need for attention from the dermatologist to recognize uncommon neoplasms in the clinical practice. We report a case of a 15-year-old patient diagnosed with atrophic Dermatofibrosarcoma protuberans on the back.